Brachydactyly (Q21202913)

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Language	Label	Description	Also known as
English	Brachydactyly	scientific article

Statements

scholarly article

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2 references

13 March 2019

10 January 2024

Brachydactyly (English)

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congenital foot deformity

2 references

13 March 2019

10 January 2024

hand congenital deformity

2 references

13 March 2019

10 January 2024

object named as

Mona S Aglan

author given names

Mona S

author last names

Aglan

2

1 reference

11 July 2022

author name string

Samia A Temtamy

1

author given names

Samia A

author last names

Temtamy

1 reference

11 July 2022

language of work or name

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publication date

13 June 2008

2 references

13 March 2019

10 January 2024

Orphanet Journal of Rare Diseases

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13 March 2019

10 January 2024

3

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1

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15

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copyright license

Creative Commons Attribution 2.0 Generic

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Europe PubMed Central

13 March 2019

Europe PubMed Central

10 January 2024

copyright status

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on focus list of Wikimedia project

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https://scigraph.springernature.com/pub.10.1186/1750-1172-3-15

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Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

19 March 2017

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

19 March 2017

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

19 March 2017

Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

19 March 2017

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

19 March 2017

Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

19 March 2017

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

19 March 2017

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

19 March 2017

Rubinstein-Taybi syndrome: clinical and molecular overview

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

12 September 2017

A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

12 September 2017

A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

12 September 2017

Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

12 September 2017

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

12 September 2017

Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

12 September 2017

Imprinting in Albright's hereditary osteodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

12 September 2017

Recessively inherited brachydactyly type C.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

12 September 2017

The genetics of a common Indian digital abnormality

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

12 September 2017

The nature and inheritance of Kirner's deformity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

12 September 2017

Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

27 September 2017

International nosology and classification of constitutional disorders of bone (2001).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

30 May 2018

A new brachydactyly syndrome with similarities to Julia Bell types B and E.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

30 May 2018

The pattern of shortening of the bones of the hand in PHP and PPHP--A comparison with brachydactyly E, Turner Syndrome, and acrodysostosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

30 May 2018

Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

29 November 2018

A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

29 November 2018

Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

29 November 2018

Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

29 November 2018

The mutational spectrum of brachydactyly type C

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

29 November 2018

Intrafamilial clinical variability in type C brachydactyly.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

29 November 2018

Brachydactyly type A-4 (Temtamy type) with short stature in a Japanese girl and her mother

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

29 November 2018

https://api.crossref.org/works/10.1186%2F1750-1172-3-15

7 January 2021

based on heuristic

inferred from DOI database lookup

The clinical behavior of genetic disease: selected aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

29 November 2018

Brachydactyly and Pseudo-Pseudohypoparathyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

29 November 2018

Brachydactyly with absence of middle phalanges and hypoplastic nails. A new hereditary syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

29 November 2018

Familial combination of brachydactyly, type E and atrial septal defect, type II.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441618

29 November 2018

Independence of brachymesophalangia-5 from brachymesophalangia-5 with cone mid-5

1 reference

https://pubmed.ncbi.nlm.nih.gov/18554391

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new syndrome of brachydactyly of the hands and feet with duplication of the first toes

1 reference

https://pubmed.ncbi.nlm.nih.gov/18554391

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Brachydactyly with major involvement of proximal phalanges

1 reference

https://pubmed.ncbi.nlm.nih.gov/18554391

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p

1 reference

https://pubmed.ncbi.nlm.nih.gov/18554391

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone

1 reference

https://pubmed.ncbi.nlm.nih.gov/18554391

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Is brachydactyly type Ballard a variant of brachydactyly type E?

1 reference

https://pubmed.ncbi.nlm.nih.gov/18554391

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial absence of middle phalanges with nail dysplasia: a new syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/18554391

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New syndrome: Exostoses, anetodermia, brachydactyly

1 reference

https://pubmed.ncbi.nlm.nih.gov/18554391

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Abnormalities of musculo-skeletal system observed in Shizuoka school children]

1 reference

https://pubmed.ncbi.nlm.nih.gov/18554391

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A GENETIC STUDY ON THE ABNORMAL SHORTENINGS OF THE FINGER

1 reference

https://pubmed.ncbi.nlm.nih.gov/18554391

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Short-metacarpal or metatarsal bones: pseudo-pseudohypoparathroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/18554391

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nosology and classification of genetic skeletal disorders: 2006 revision

1 reference

https://pubmed.ncbi.nlm.nih.gov/18554391

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HEREDITARY SHORTNESS OF THUMBS

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-3-15

7 January 2021

based on heuristic

inferred from DOI database lookup

A new type of hereditary brachyphalangy in man

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-3-15

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1186/1750-1172-3-15

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Dimensions Publication ID

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release_wrnpcesapfgarnnrvksuc3oy4q

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ResearchGate publication ID

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